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19 Possible Causes for Multiple Congenital Anomalies, Muscle Hypotonia, Wide Space Between the First and Second Toe

  • Down Syndrome

    From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

  • Dubowitz Syndrome

    Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome.[ncbi.nlm.nih.gov]

  • Craniofrontonasal Dysplasia

    Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Russell-Silver Syndrome

    Generalized low muscle tone in neonate 0008935 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more[rarediseases.info.nih.gov] congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org] […] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2F Syndromes with multiple structural anomalies, without[genome.jp]

  • Weaver Syndrome

    Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Schinzel–Giedion Syndrome Individuals with Schinzel–Giedion syndrome (SGS) have severe developmental delay, distinctive facial features, and multiple congenital anomalies[clincancerres.aacrjournals.org]

  • Trisomy 10p

    Hypotonia Respiratory System Hypoplastic And Cystic Lungs And Abnormal Lobulation Gastrointestinal System Agenesis Of Gallbladder Anal Atresia Synonyms: 10P Syndrome 10P[neo-genetics.com] congenital anomalies.[ncbi.nlm.nih.gov] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com]

  • Ring Chromosome 10

    Low or weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap[rarediseases.info.nih.gov] congenital anomalies.[hub.hku.hk] […] der Veken LT, Dieleman MM, Douben H, van de Brug JC, van de Graaf R, et al. (2010) Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple[omicsonline.org]

  • Atelosteogenesis Type 2

    He had difficulty in walking, mild proximal muscular hypotonia in the lower extremities and hyperactive deep tendon reflexes.[nature.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal[blueprintgenetics.com]

  • Genee-Wiedemann Syndrome

    Grubben de Cock Borghgraef syndrome 0 *Developmental Disabilities *Eczema/congenital *Muscle Hypotonia/congenital *Tooth Abnormalities *Limb Deformities, Congenital.[reference.md] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Cutis Laxa

    Individuals with EFEMP2 -related cutis laxa usually present with muscle hypotonia. Other common findings are arachnodactyly, joint laxity, and pectus deformities.[ncbi.nlm.nih.gov] Abstract The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid[ncbi.nlm.nih.gov] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

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